A Novel HERC2 Variant in Two Siblings with Autosomal Recessive Intellectual Developmental Disorder-38 and Cardiomyopathy

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dc.contributor.authorHüseyin Bahadır Şenol
dc.contributor.authorÇağatay Günay
dc.contributor.authorAyşe İpek Polat
dc.contributor.authorAdem Aydın
dc.contributor.authorAyşe Semra Hiz
dc.contributor.authorUluç Yiş
dc.date.accessioned2025-02-11T05:54:24Z
dc.date.available2025-02-11T05:54:24Z
dc.date.issued2024-12-10
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü
dc.description.abstractBackground: HERC2 encodes an E3 ubiquitin ligase that plays a critical role in brain development. Loss-of-function variants are associated with severe neurodevelopmental phenotypes, including intellectual disability, epilepsy, and various structural anomalies. This report aimed to expand phenotypic spectrum of HERC2-related disorders, including an unusual cardiac manifestation. Case Presentation: The proband, a male infant born to consanguineous parents, presented with myoclonia-like eyelid movements at 50-days old and subsequently developed severe neuromotor regression and choreoathetotic movements. Brain magnetic resonance imaging revealed diffuse cerebral atrophy, corpus callosum thinning, and bilateral pachygyria. He also exhibited distinct dysmorphic features and dilated cardiomyopathy, confirmed by echocardiography. His sibling presented with similar features, including severe developmental delay and dilated cardiomyopathy. Whole-exome sequencing identified a homozygous likely pathogenic c.7645C>T (p.Gln2549Ter) variant in the HERC2 gene. This case report is significant as it describes dilated cardiomyopathy in MRT38, a manifestation not previously associated with HERC2 variants. The unusual cardiac phenotype suggests a potential link between HERC2 dysfunction and mitochondrial impairment, contributing to cardiomyopathy. Conclusion: These patients underscore the importance of recognizing novel clinical features associated with the HERC2 LoF variants, which can guide disease characterization and patient management.
dc.identifier.citationŞenol, H. B., Günay, Ç., Polat, A. İ., Aydın, A., Hiz, A. S., & Yiş, U. (2024). A Novel HERC2 Variant in Two Siblings with Autosomal Recessive Intellectual Developmental Disorder-38 and Cardiomyopathy. Molecular Syndromology, 1-11.
dc.identifier.doi10.1159/000543054
dc.identifier.issn1661-8769
dc.identifier.issn1661-8777
dc.identifier.scopus2-s2.0-85216320859
dc.identifier.scopusqualityN/A
dc.identifier.urihttps://doi.org/10.1159/000543054
dc.identifier.urihttps://hdl.handle.net/20.500.12604/8493
dc.indekslendigikaynakScopus
dc.institutionauthorGünay, Çağatay
dc.institutionauthorid0000-0001-7860-6297
dc.language.isoen
dc.publisherS. Karger AG
dc.relation.ispartofMolecular Syndromology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Başka Kurum Yazarı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectDevelopmental delay
dc.subjectDysmorphology
dc.subjectHERC2
dc.subjectMitochondrial impairment
dc.subjectNeuronal migration disorders
dc.subjectWhole-exome sequencing
dc.titleA Novel HERC2 Variant in Two Siblings with Autosomal Recessive Intellectual Developmental Disorder-38 and Cardiomyopathy
dc.typejournal-article

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